Incidental Mutation 'R3968:E2f1'
| ID |
312429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f1
|
| Ensembl Gene |
ENSMUSG00000027490 |
| Gene Name |
E2F transcription factor 1 |
| Synonyms |
E2F-1 |
| MMRRC Submission |
040936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.858)
|
| Stock # |
R3968 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154401327-154411812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 154405942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 144
(G144R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000894]
[ENSMUST00000103145]
|
| AlphaFold |
Q61501 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000894
AA Change: G99R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490
AA Change: G99R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:E2F_TDP
|
77 |
142 |
1.1e-25 |
PFAM |
|
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103145
AA Change: G144R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490
AA Change: G144R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
82 |
N/A |
INTRINSIC |
|
E2F_TDP
|
122 |
187 |
1.63e-30 |
SMART |
|
Pfam:E2F_CC-MB
|
201 |
294 |
2.2e-37 |
PFAM |
|
low complexity region
|
318 |
340 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6284 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
| Cela1 |
C |
T |
15: 100,582,534 (GRCm39) |
G93S |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cysltr2 |
A |
G |
14: 73,267,614 (GRCm39) |
I32T |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
| Fzd8 |
T |
C |
18: 9,214,070 (GRCm39) |
V384A |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| H2-M2 |
C |
T |
17: 37,792,197 (GRCm39) |
G318S |
possibly damaging |
Het |
| Il21r |
G |
T |
7: 125,227,215 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
C |
7: 127,712,205 (GRCm39) |
Y697H |
probably damaging |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Net1 |
A |
G |
13: 3,957,795 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Oard1 |
T |
C |
17: 48,722,282 (GRCm39) |
Y93H |
probably damaging |
Het |
| Or4n5 |
A |
T |
14: 50,132,983 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,778,867 (GRCm39) |
L1825P |
probably damaging |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,742,382 (GRCm39) |
D1058E |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
T |
C |
10: 76,877,680 (GRCm39) |
Y72H |
probably damaging |
Het |
| Sntb2 |
T |
A |
8: 107,723,772 (GRCm39) |
Y340* |
probably null |
Het |
| Srrm4 |
A |
G |
5: 116,582,803 (GRCm39) |
|
probably benign |
Het |
| Ssb |
C |
T |
2: 69,697,793 (GRCm39) |
|
probably benign |
Het |
| Sval2 |
T |
A |
6: 41,838,861 (GRCm39) |
V14E |
probably damaging |
Het |
| Tmc2 |
T |
G |
2: 130,043,991 (GRCm39) |
V75G |
probably benign |
Het |
| Tnnc2 |
T |
C |
2: 164,619,457 (GRCm39) |
E129G |
possibly damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Yap1 |
C |
T |
9: 7,973,877 (GRCm39) |
R188Q |
probably damaging |
Het |
|
| Other mutations in E2f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0666:E2f1
|
UTSW |
2 |
154,402,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0674:E2f1
|
UTSW |
2 |
154,406,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:E2f1
|
UTSW |
2 |
154,402,849 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3747:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:E2f1
|
UTSW |
2 |
154,402,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3844:E2f1
|
UTSW |
2 |
154,402,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3969:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:E2f1
|
UTSW |
2 |
154,406,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5666:E2f1
|
UTSW |
2 |
154,411,101 (GRCm39) |
intron |
probably benign |
|
|
R6368:E2f1
|
UTSW |
2 |
154,406,396 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9348:E2f1
|
UTSW |
2 |
154,402,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAGGAAGCCACTGCAAG -3'
(R):5'- GAGACATTTGCCTCATCTTGC -3'
Sequencing Primer
(F):5'- GCCACTGCAAGCAATTTGG -3'
(R):5'- CACTCACTCTACATTGCTAGGGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation